There is little information on fibular hemimelia because it is so rare. It can be scary for new parents who aren't sure what is wrong with their child, especially when their doctors haven't seen a case of FH. My hope is that this page and our experiences will help other parents who are dealing with this diagnosis.
Fibular Hemimelia, currently called Longitudinal Fibular Deficiency, is characterized by a completely missing or partially missing fibula bone. Each person's leg has two bones- the tibia and fibula- and people with FH are missing part or all of their fibula. Due to the absence of this bone, it often results in a bowed tibia with the affected leg being shorter than the non-affected leg. The discrepancy in leg lengths can vary depending on the child, but a commonly used estimate of severity of the difference is : <15% difference: less severe, 15-25% difference: moderate, and >25% difference: severe. Anna has a 27% difference in length between her right and left legs, which is considered on the severe side. The absence of the fibula also causes an unstable ankle joint and a partially formed foot with one to five toes (Anna has four toes).
As of now Fibular Hemimelia has no known cause and occurs randomly in the first two months of fetal development, though there is ongoing research to learn more. It is not considered to be genetic or inherited, so if you have a child with FH you have no greater chance of having another child with FH than the general population, and the same for their children. Males are affected twice as often as females, and most often it is unilateral (occurring in only one leg) but can also be bilateral (both legs affected). Anna has only one leg affected. FH can also occur with a short femur, missing knee joints, and even some upper extremity deficiencies (missing a hand, fingers, etc). Anna has no femur, knee, or hip abnormalities. She has two fingers fused by the skin on her right hand that can be separated with surgery. Otherwise her upper limbs are normal.
Anna's leg at four months:
Treatment consists of either 1) leg lengthening and foot reconstruction surgeries or 2) amputation and a prosthesis.
We made a treatment decision that we could celebrate. Anna had a left boyd amputation of her foot and osteotomy of her tibia on March 6, 2012. She also had her two fused fingers separated at that time. You can read posts related to her surgery here. They will be listed from newest to oldest. The first one was titled "Ready or Not" (you can go all the way back by clicking on "older posts" at the bottom right until you reach the first one).
If you want to read all the posts related to Anna's fibular hemimelia, including the initial diagnosis, weighing the treatment options, day-to-day thoughts, go here: FH Posts. The first one is titled "The Story."
Here are some of the important posts about Anna's FH throughout our journey:
Birth story (April 2011)
Our decision and weighing the treatment options (August 2011)
Experiencing grief (August 2011)
Letter to my daughter (October 2011)
Surgery day (March 2012)
Reflections on the first year (March 2012)
How to talk to people with a disability (March 2012)
Getting her cast off (April 2012)
Anna's first prosthetic leg (June 2012)
Check out my Fibular Hemimelia resources page!